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Article

Effect of genetic background on the phenotype of the Smn2B/- mouse model of spinal muscular atrophy.

Human molecular genetics - 15 Oct 2016

Eshraghi Mehdi, McFall Emily, Gibeault Sabrina, Kothary Rashmi

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by mutations or deletions in the Survival Motor Neuron 1 (SMN1) gene in humans. Modifiers of the SMA symptoms have been identified and genetic background has a substantial effect in the phenotype and survival of the severe mouse model of SMA. Previously, we generated the less severe Smn2B/- mice on a mixed genetic background. To assess the phenotype of Smn deficiency on a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Atrophy, Spinal

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Source

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Identifiers

PMID: 28172892
DOI: 10.1093/hmg/ddw278
PMCID: PMC5409218

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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